Incidental Mutation 'R6011:Amer1'
ID 479784
Institutional Source Beutler Lab
Gene Symbol Amer1
Ensembl Gene ENSMUSG00000050332
Gene Name APC membrane recruitment 1
Synonyms 2810002O09Rik, Amer1, Fam123b, Wtx
MMRRC Submission 043253-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6011 (G1)
Quality Score 133.973
Status Not validated
Chromosome X
Chromosomal Location 94463919-94488446 bp(-) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC to ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC at 94470889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084535]
AlphaFold Q7TS75
Predicted Effect probably benign
Transcript: ENSMUST00000084535
SMART Domains Protein: ENSMUSP00000109502
Gene: ENSMUSG00000050332

DomainStartEndE-ValueType
Pfam:WTX 89 556 3.5e-128 PFAM
low complexity region 591 615 N/A INTRINSIC
low complexity region 754 766 N/A INTRINSIC
low complexity region 789 799 N/A INTRINSIC
low complexity region 904 913 N/A INTRINSIC
low complexity region 934 942 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
PHENOTYPE: Male mice hemizygous for a null mutation display neonatal lethality with cardiac overgrowth, bone overgrowth, bilateral or unilateral renal agenesis coupled with renal overgrowth, adipocyte and spleen hypoplasia, and altered mesenchymal progenitor cell fate specification. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,136,570 (GRCm39) N533K probably benign Het
Adamts15 G T 9: 30,814,082 (GRCm39) H694Q probably damaging Het
Adcy5 T C 16: 34,977,598 (GRCm39) L377P probably benign Het
Add2 T C 6: 86,075,607 (GRCm39) L252P probably damaging Het
Ankrd13d A G 19: 4,331,962 (GRCm39) L39P probably damaging Het
Asic1 G T 15: 99,596,960 (GRCm39) A541S probably benign Het
Bhmt1b A G 18: 87,774,663 (GRCm39) E62G probably damaging Het
Bpifb2 A G 2: 153,731,496 (GRCm39) probably null Het
Catsper3 A G 13: 55,934,305 (GRCm39) I75M probably damaging Het
Ccser2 T C 14: 36,601,532 (GRCm39) E837G probably benign Het
Clasp2 C T 9: 113,705,315 (GRCm39) P557L probably benign Het
Clstn2 C T 9: 97,338,579 (GRCm39) R860Q probably benign Het
Cplx3 A T 9: 57,523,038 (GRCm39) D140E probably damaging Het
Cyp2c66 A G 19: 39,130,380 (GRCm39) K72E probably benign Het
Cyp3a44 A G 5: 145,738,084 (GRCm39) probably null Het
Disp2 G A 2: 118,621,301 (GRCm39) V678I possibly damaging Het
Dock4 T C 12: 40,867,756 (GRCm39) probably null Het
Eml3 T C 19: 8,916,471 (GRCm39) Y688H probably damaging Het
Fam187a A G 11: 102,776,267 (GRCm39) K24E probably damaging Het
Fhit T C 14: 9,870,068 (GRCm38) K134E probably benign Het
Foxl3 A G 5: 138,807,374 (GRCm39) *217W probably null Het
Gm16485 A T 9: 8,972,454 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Hmgxb3 G A 18: 61,296,096 (GRCm39) T304I probably damaging Het
Lgsn A G 1: 31,242,847 (GRCm39) S310G probably damaging Het
Muc21 T A 17: 35,933,074 (GRCm39) probably benign Het
Niban2 T C 2: 32,812,877 (GRCm39) Y482H probably damaging Het
Or12e13 A G 2: 87,664,259 (GRCm39) N292S probably damaging Het
Or4k42 C A 2: 111,320,192 (GRCm39) A104S probably benign Het
Or6c8b A T 10: 128,882,508 (GRCm39) H141Q probably benign Het
Or7g25 T A 9: 19,159,807 (GRCm39) E296V probably damaging Het
Or9i1b G A 19: 13,896,521 (GRCm39) V46I probably benign Het
Pelo A G 13: 115,226,302 (GRCm39) S52P probably benign Het
Prune2 A G 19: 17,096,080 (GRCm39) N528S probably benign Het
Rfc3 T A 5: 151,567,184 (GRCm39) I291L probably damaging Het
Rpl35 A T 2: 38,894,813 (GRCm39) probably null Het
Sectm1b C T 11: 120,946,704 (GRCm39) V64I possibly damaging Het
Serpina12 A G 12: 104,001,993 (GRCm39) M241T probably damaging Het
Serpina1a T A 12: 103,823,728 (GRCm39) D195V probably damaging Het
Sesn2 C T 4: 132,226,708 (GRCm39) V129M probably damaging Het
Slc4a1 A C 11: 102,243,357 (GRCm39) V758G probably damaging Het
Tmx4 A T 2: 134,481,756 (GRCm39) Y56N probably damaging Het
Traj50 T C 14: 54,405,091 (GRCm39) probably benign Het
Trio T G 15: 27,735,631 (GRCm39) K2820Q probably damaging Het
Ttc28 G A 5: 111,434,309 (GRCm39) G2417S probably benign Het
Usp32 T C 11: 84,922,923 (GRCm39) D665G possibly damaging Het
Other mutations in Amer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Amer1 APN X 94,470,716 (GRCm39) missense probably benign
IGL02514:Amer1 APN X 94,470,117 (GRCm39) missense possibly damaging 0.82
R9532:Amer1 UTSW X 94,470,889 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TTGGGAGCAGACTCTTGCTG -3'
(R):5'- GATGGGACCAAGCGAAGTTC -3'

Sequencing Primer
(F):5'- GTGTCAAAAGTTCTCCAAGGCCTAG -3'
(R):5'- CAAGCGAAGTTCCTGCTTGGTAAC -3'
Posted On 2017-06-26